| Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA |
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| Circulating miR-320a-3p and miR-483-5p level associated with pharmacokinetic–pharmacodynamic profiles of rivaroxaban |
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| Identification of a minimum number of genes to predict triple-negative breast cancer subgroups from gene expression profiles |
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Italian |
| Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci |
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| Preimplantation genetic testing for aneuploidy: challenges in clinical practice |
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| Correction: Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility |
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| Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort |
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| Pan-cancer illumination of TRIM gene family reveals immunology regulation and potential therapeutic implications |
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| The bridge-like lipid transfer protein (BLTP) gene group: introducing new nomenclature based on structural homology indicating shared function |
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| Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis |
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| Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort |
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✓ |
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European population |
| The integration of large-scale public data and network analysis uncovers molecular characteristics of psoriasis |
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| Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility |
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| Increased risk of COVID-19 mortality rate in IFITM3 rs6598045 G allele carriers infected by SARS-CoV-2 delta variant |
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| The importance of being the HGNC |
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| Differential upregulation of AU-rich element-containing mRNAs in COVID-19 |
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| Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis |
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| De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies |
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| Placing human gene families into their evolutionary context |
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| A review on the application of the exposome paradigm to unveil the environmental determinants of age-related diseases |
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| Integrated proteomic and metabolomic modules identified as biomarkers of mortality in the Atherosclerosis Risk in Communities study and the African American Study of Kidney Disease and Hypertension |
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| De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability |
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| Copy number variant analysis for syndromic congenital heart disease in the Chinese population |
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| DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics |
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| CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements |
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| Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes |
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| rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms |
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| Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis |
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| Analysis on in vitro effect of lithium on telomere length in lymphoblastoid cell lines from bipolar disorder patients with different clinical response to long-term lithium treatment |
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| Pharmacogenomics implementation in cardiovascular disease in a highly diverse population: initial findings and lessons learned from a pilot study in United Arab Emirates |
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| Circular RNA hsa_circ_0000915 promotes propranolol resistance of hemangioma stem cells in infantile haemangiomas |
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| J’Accuse….. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing |
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| Novel clinical, molecular and bioinformatics insights into the genetic background of autism |
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| Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants |
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| De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children |
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Chinese Han |
| Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing |
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| Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis |
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| Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research |
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✓ |
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previously reported genome-significant findings in Europeans |
| Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking |
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| Maternal obesity alters methylation level of cytosine in CpG island for epigenetic inheritance in fetal umbilical cord blood |
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| On the relationship between tripartite motif-containing 22 single-nucleotide polymorphisms and COVID-19 infection severity |
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| SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects |
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| Expanding ACMG variant classification guidelines into a general framework |
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| 1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants |
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| Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders |
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| Epigenetics may characterize asymptomatic COVID-19 infection |
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| Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1 |
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| A review of deep learning applications in human genomics using next-generation sequencing data |
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| RNA modification-related variants in genomic loci associated with body mass index |
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| Alternative transcription start sites contribute to acute-stress-induced transcriptome response in human skeletal muscle |
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| Identification of phenylketonuria patient genotypes using single-gene full-length sequencing |
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✓ |
✓ |
Chinese |
| Genetic etiology and clinical challenges of phenylketonuria |
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| Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures |
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| From COVID to fibrosis: lessons from single-cell analyses of the human lung |
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| COVID-19 2022 update: transition of the pandemic to the endemic phase |
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| Genomic supremacy: the harm of conflating genetic ancestry and race |
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✓ |
✓ |
continental ancestry; genetic ancestry; racial corrections; race; racialized inequities |
| Retraction Note: lncRNA TUG1 modulates proliferation, apoptosis, invasion, and angiogenesis via targeting miR-29b in trophoblast cells |
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| Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia |
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| Integrative analysis of multi-omics data to detect the underlying molecular mechanisms for obesity in vivo in humans |
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| Cross talk between RNA modification writers and tumor development as a basis for guiding personalized therapy of gastric cancer |
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| Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis |
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| The role of m6A methylation in osteosarcoma biological processes and its potential clinical value |
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| Single-nucleotide polymorphisms as important risk factors of diabetes among Middle East population |
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| Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome |
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✓ |
✓ |
gnomAD East Asian populations; Beijing, China |
| Examining key factors impact on health science students’ intentions to adopt genetic and pharmacogenomics testing: a comparative path analysis in two different healthcare settings |
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✓ |
✓ |
Greeks (Europe; Christian); Greeks and Malays (with regional labels 'Europe' and 'Asia' and religious labels 'Christian' and 'Mu |
| Enhancer promoter interactome and Mendelian randomization identify network of druggable vascular genes in coronary artery disease |
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| From shallow to deep: some lessons learned from application of machine learning for recognition of functional genomic elements in human genome |
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| Frequencies of CYP2D6 genetic polymorphisms in Arab populations |
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| A glycolysis-related two-gene risk model that can effectively predict the prognosis of patients with rectal cancer |
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| Why are keratins important? |
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| A framework for research into continental ancestry groups of the UK Biobank |
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✓ |
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✓ |
✓ |
✓ |
European ancestry; non-white British |
| Contribution of 3D genome topological domains to genetic risk of cancers: a genome-wide computational study |
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| Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders |
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